Pericentromeric inversion of the heterochromatic region of chromosome 9 has been reported in almost 4% of the cases of male infertility. Objective: Determining the karyotype from an infertile couple scheduled to perform in vitro fertilization (IVF). Materials and methods: Slides with metaphasic chromosomes were GTG-banded according to standard protocol for cytogenetic analysis (karyotype). FISH analysis -inverted DAPI (4'-6-diamidino-2-phenylindole) staining was used to confirm the anomaly in chromosome structure. Results: The karyotype revealed modification of the heterochromatic region of both chromosome 9 in the male partner. The karyotype for female partner was normal. In case of male partner we suspected the pericentromeric inversion of the heterochromatic region of the long arm (q) of chromosome 9. Using Inverted-DAPI staining we confirmed the inversion on both chromosomes. Conclusion: Karyotyping followed by FISH is useful to select appropriate couples to improve the success rate of IVF. Further investigation of the hormonal profile and seminal liquid analyses for male partner will show the involvement of the chromosomal abnormality in the hypothalamic-pituitary-testicular axis.
Background. Obesity is associated with adipocyte dysfunction, characterized by an impaired secretion of adipokines, which leads to a systemic inflammatory status, insulin resistance and atherogenesis. Aim. To characterize adipokines serum profile in a group of obese children and adolescents. Method. A case control study comparing 102 obese children (BMI≥ 95 th percentile) (aged 10-18 years) to a group of 43 healthy controls matched for age and pubertal status. Adiponectin, leptin, resistin, A-FABP and lipocalin-2 were measured using ELISA method and were correlated with traditional clinical and biochemical biomarkers of the metabolic syndrome (BMI, waist circumference, blood pressure, fasting glycaemia and insulinemia, lipids profile). The BMI, waist circumference (WC), systolic and diastolic blood pressure (BP) were adjusted for age, sex and height according to WHO growth charts and the NHANES references. HOMA-index was calculate using the formula: a jeun glycaemia (mg/dl) * a jeun insulinemia µUI/ml/405; insulin resistance summary score (IRS) was calculated by adding the quartiles for systolic blood pressure, a jeun glycaemia, insulinemia and serum triglycerides (analyzed ascending) and serum HDL-cholesterol (analyzed descending). Results. Obese children had significantly higher waist circumferences, BP and serum levels of triglycerides and significantly lower serum levels of HDL-cholesterol (table 1). All insulin resistance biomarkers (a jeun insulinemia, HOMA-index and IRS) were significantly higher in the obese group compared to the control group (figure 1).
Graphical AbstractOne year r-GH therapy influence on blood gamma-amino-butyric acid, serotonin, dopamine and IGF-1 in 15 growth-hormone deficient children 2 GABA/DA/IGF1 >> 3 Aim: To quantify the effect of 1 year r-GH therapy on blood gamma-amino-butyric acid(GABA), serotonin (5-HT),dopamine(DA) and IGF-1 in 15 growth hormone(GH) deficient children. Research design and methods: This retrospective study included 8 boys (7-14years) and 7 girls (7-14years) with clinically established GH deficit and under GH replacement therapy.In 2016 they were quantified for GABA, DA, 5-HT and IGF-1.After 1 year again of GH therapy they were once more tested for the same parameters using analytical methods. Results: Median plasma parameters in 8 boys pre-vs. post-GH therapy was: GABA: 59.44 vs. 105.83ng/mL; 5-HT: 269.66 vs.196.55ng/mL; DA: 46.66 vs.91.5pg/mL; IGF-1: 367.38 vs. 445.5ng/mL.The same parameters were tested in 7 girls as median pre-vs. post-GH therapy: GABA: 45 vs.96ng/mL; 5-HT: 215 vs.200ng/mL;DA: 40 vs. 60pg/mL; IGF-1: 284 vs.420ng/mL.We established statistical significant differences in boys group pre-and post-treatment in: plasma GABA(P<0.001),serum 5-HT(P<0.01),plasma DA(P<0.02),serum IGF-1(P=0.02). In girls group we calculated statistical significant differences in plasma GABA pre-vs. post-therapy(P<0.001) and in plasma DA pre-vs. post-therapy(P>0.02) Conclusions:In fact replacement GH-therapy improved GABA/5-HT, GABA/DA, GABA/IGF-1,5-HT/IGF-1 correlations in boys group. In girls group we estimated improved correlations between GABA/DA,5-HT/DA, 5-HT/IGF-1.These observations could be translated in general improvement of health state in growth deficient children under GH-therapy Key words:GH deficient children,GH replacement therapy, gamma-amino-butyric acid(GABA),serotonin (5-HT),dopamine (DA) Abstract:
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